A Case of 22q11.2 Deletion Syndrome with Peters Anomaly, Congenital Glaucoma, and Heterozygous Mutation in CYP1B1

Abstract

We read with interest the recent publication by Tarlan and colleagues1 describing a patient with 22q11.2 deletion syndrome and ocular features of right microphthalmia and left anterior segment dysgenesis. While anterior segment dysgenesis disorders are occasionally reported with 22q11.2 deletions,2–5 this remains a rare association. We report here an 8-year-old patient with 22q11.2 deletion syndrome and bilateral Peters anomaly with congenital glaucoma; in addition, our patient was found to have a single heterozygous mutation in CYP1B1, c.83C > T, p.(Ser28Trp).

• 22q11.2 deletion syndrome
• congenital glaucoma
• CYP1B1
• peters anomaly

Acknowledgments

The authors gratefully acknowledge the patient and her family for their participation in the research studies.

Declaration of interest

The authors report no conflicts of interest. The authors alone are responsible for the content and writing of the paper.

This work was supported by the National Institutes of Health awards R01EY015518, R21DC010912 and funds provided by the Children’s Hospital of Wisconsin (EVS), and 1UL1RR031973 from the Clinical and Translational Science Award (CTSA) program.